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Article

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.

Neuromuscular disorders : NMD - 1 Oct 1998

Phillips M F, Rogers M T, Barnetson R, Braun C, Harley H G, Myring J, Stevens D, Wiles C M, Harper P S

Abstract excerpt

We describe a family with a proximal myopathy, subclinical EMG myotonia, cataracts and deafness. Transmission through two generations and down the male line confirms autosomal dominant inheritance. There was no abnormal expansion of the CTG triplet repeat in the last exon of the dystrophia myotonica protein kinase (DMPK) gene associated with myotonic dystrophy. Heteroduplex analysis of all but the promoter region...

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Source

Identifiers

PMID: 9829272
DOI: 10.1016/s0960-8966(98)00054-6

Genes

DMPK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.PMID 9829272Read ↗

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A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.Semantic proximity Read ↗

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[Proximal myotonic myopathy (PROMM). Clinical variability within a family].Semantic proximity Read ↗

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?Semantic proximity Read ↗

Phenotypic variability and molecular genetics in proximal myotonic myopathy.Semantic proximity Read ↗

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.Semantic proximity Read ↗

Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.Semantic proximity Read ↗

Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.Semantic proximity Read ↗

Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2).Semantic proximity Read ↗

Presymptomatic diagnosis of myotonic dystrophy.Semantic proximity Read ↗

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